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Leydig cell hypoplasia due to complete LH resistance
1 OMIM reference -
1 associated gene
9 connected diseases
No signs/symptoms info
Disease Type of connection
Familial male-limited precocious puberty
Leydig cell hypoplasia due to partial LH resistance
Athyreosis
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Familial gestational hyperthyroidism
Familial hyperthyroidism due to mutations in TSH receptor
Hypothyroidism due to TSH receptor mutations
Leydig cell hypoplasia due to LHB deficiency
Thyroid hypoplasia
Synonym(s):
- 46,XY DSD due to complete LH receptor inactivation
- 46,XY DSD due to complete LH resistance
- 46,XY DSD due to complete luteinizing hormone receptor inactivation
- 46,XY DSD due to complete luteinizing hormone resistance
- 46,XY disorder of sex development due to complete LH receptor inactivation
- 46,XY disorder of sex development due to complete LH resistance
- 46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation
- 46,XY disorder of sex development due to complete luteinizing hormone resistance
- Leydig cel hypoplasia due to complete LH receptor inactivation
- Leydig cel hypoplasia due to complete luteinizing hormone receptor inactivation
- Leydig cel hypoplasia due to complete luteinizing hormone resistance
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare infertility
- Rare urogenital disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
LHCGR P22888152790
No signs/symptoms info available.